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Ehlers-Danlos syndrome
Types of ehlers-danlos syndrome
The different types of the syndrome are not graded in order of severity of the condition but each is a distinct type. Severe forms of the condition may be life threatening.
The re-categorisation of the Ehlers-Danlos syndromes appeared in the Revised Nosology, Villefranche, 1997.
Classical type (Formerly EDS I & II, gravis and mitis type).
Major clinical features: Skin hyperextensibility; widened thin scars; joint hypermobility.
Minor clinical features: Smooth velvety skin; complications of loose joints; muscle hypotonia; easy bruising; manifestations of tissue extensibility (hernia, cervical insufficiency, etc); positive family history of EDS.
Basic defect: Abnormality of the pro alpha 1 (V) or pro alpha 2 (V) chain of the type V collagen encoded by COL5A1 and COL5A2 genes (in some but not all families).
Hypermobility type (Formerly EDS III hypermobile type).
Major clinical features: Generalised joint hypermobility; skin hyperextensible and smooth or velvety.
Minor slinical features: Recurrent joint dislocations; chronic limb and joint pains; positive family history of EDS.
Basic defect: Unknown.
Vascular type (Formerly EDS Type IV arterial or ecchymotic type).
Major clinical features: Arterial/intestinal/uterine fragility or rupture; easy bruising; characteristic facial appearance.
Minor clinical features: Hypermobility of small joints; tendon and muscle rupture; clubfeet; varicose veins; positive family history of EDS; sudden death of close relative.
Basic defect: Structural defects in the proa I(III) chain of collagen type III, encoded by the COL3A1 gene.
Kyphoscoliosis type (Formerly EDS VI ocular or scoliosis type).
Major clinical features: Generalised joint laxity; severe muscle hypotonia in infancy; scoliosis present at birth and progressive; fragility of the sclera of the eye.
Minor clinical features: Tissue fragility; easy bruising; arterial rupture; marfanoid body shape; microcornea; skeletal osteopenia on X-ray; positive family history of affected siblings.
Basic defect: Deficiency of lysyl hydroxylase, a collagen modifying enzyme.
Arthrochalasia type (Formerly EDS VIIB type).
Major clinical features: Severe generalised joint hypermobility with dislocations; congenital bilateral hip dislocations.
Minor clinical features: Skin hyperextensibility; tissue fragility and scarring; easy bruising; muscle hypotonia; kyphoscoliosis; skeletal osteopenia on X-ray; positive family history of EDS.
Basic defect: Deficiencies of the proa (l) or proa 2(l) chains of collagen type I due to skipping of exon 6 in the COL1A1 or COL1A2 gene.
Dermatosparaxis type (Formerly EDS VII type).
Major clinical features: Severe skin fragility; sagging, redundant skin.
Minor clinical features: Soft, doughy skin texture; easy bruising; premature rupture of fetal membranes; hernias.
Basic defect: Deficiency of procollagen 1 N-terminal peptidase in collagen type I.
Background
| Inheritance patterns and prenatal diagnosis 
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